Project information

Justice for Our Girls

Mutations in the gene MECP2 cause Rett Syndrome. But there are people who have MECP2 mutations that don’t have Rett Syndrome because mutations in other genes are protecting them. Monica Justice is looking for these modifier genes to find alternative therapeutic targets for Rett Syndrome.

Charity information: Reverse Rett

Need

Rett Syndrome is a devastating condition for which there is no treatment, yet the condition has already been completely reversed in the lab. We know that mutations in the gene MECP2 cause Rett Syndrome. This gene makes a protein which is needed for normal brain function. When the protein is replaced at adequate levels, the symptoms go away. But putting the protein back is tricky; we don't know what the correct level is and methods of safe delivery have not yet been identified.

Solution

There are some people who have MECP2 mutations which have not caused them to have Rett Syndrome. Some of these people are protected from MECP2 mutations by mutations in other genes. Monica Justice is searching for these modifier genes, going at the disorder inside out, to find alternative therapeutic targets for Rett Syndrome.

What success will look like

Impact

This work will inevitably yield potential therapeutic targets for Rett syndrome, whether these address the amelioration of individual symptoms or the overall effects of the condition. But the screen will also no doubt yield vital information that will inform our understanding of the underlying mechanisms of MECP2, in terms of how the negative effects of an MECP2 mutation are circumvented by mutations in other genes. At 15% of the way through the screen, so far we have identified 5 modifiers.

Risk

The lab has already agreed to undertake this work. We do not forsee any risks affecting this project.

Reporting

Donors will receive updates on this work on a regular basis, as and when information is proferred by the lab. On publication of any data from this project, we will provide written resources as well as video animation and interviews to clarify research developments where necessary.

Current Funding / Pledges

Location

This gene modifier screen will take place at the lab of Monica Justice at Baylor College of Medicine in Texas: http://www.bcm.edu/db/db_fac-justice.html

Beneficiaries

An estimated 1:10,000 girls and women worldwide are affected by Rett Syndrome. There are also children severely affected with related MECP2 Disorders, all of whom will ultimately benefit from a better understanding of the science behind Rett/MECP2. Treatment for any of these children, at any level, from symptom management to an out and out cure, would be life changing, not only for these children but for the families who love them.

Why Us?

Reverse Rett is the only UK charity exclusively focused on accelerating treatments and cures for Rett Syndrome. SInce our inception in July 2010, we have committed over £1.5 million to research projects focused on our solution. Run by parents of children with this disorder, we are driven to do whatever it takes to see treatment developed in our children's lifetimes.